PMID: 15692830

Allabi AC, Horsmans Y, Issaoui B, Gala JL
Single nucleotide polymorphisms of ABCB1 (MDR1) gene and distinct haplotype profile in a West Black African population.
Eur J Clin Pharmacol. 2005 Apr;61(2):97-102. Epub 2005 Feb 4., [PubMed]
Sentences
No. Mutations Sentence Comment
66 ABCB1 p.Ser400Asn
X
ABCB1 p.Ser400Asn 15692830:66:441
status: NEW
view ABCB1 p.Ser400Asn details
ABCB1 p.Asn21Asp
X
ABCB1 p.Asn21Asp 15692830:66:239
status: NEW
view ABCB1 p.Asn21Asp details
 AA amino acid, n number of chromosomes examined, ND not detected Variant no.a cDNA positionb NT changec DNA/AA position AA change Allele frequencyd (n=222) 2.1 À4 C to T Non-coding 0.0045 2.2 À1 G to A Non-coding 0 2.3 61 A to G 21 Asn to Asp 0 6.1 139 C to T Intron 6 0.17 9.0* À57 del A Intron 9 0.009 10.1 À44 A to G Intron 9 0.18 10.0* À8 T to A Intron 9 0.0045 11.1 À41 T to G Intron 10 0 11.2 1199 G to A 400 Ser to Asn 0 12.2 1236 C to T 412 Syn 0.15 14.1 1617 C to T 539 Syn 0 14.0* 1662 G to C 554 Syn 0.009 14.2 38 A to G Intron 14 0.49 17.1 À76 T to A Intron 16 0.347 21.2 2650 C to T 884 Syn 0 21.3a 2677 G to T 893 Ala to Ser 0.009 21.3b 2677 G to A 893 Ala to Thr 0 26.2 3421 T to A 1141 Ser to Thr 0.054 26.3 3435 C to T 1145 Syn 0.14 a Variants are numbered sequentially by exon. Login to comment